title: South-Italy β°-thalassemia: a novel deletion not removing the γ-globin silencing element and with 3' breakpoint in a hsRTVL-H element, associated with β°-thalassemia and high levels of HbF.
authors.forename: Maria
authors.initials: M
authors.lastname: De Angioletti
authors.forename: Vincenzo
authors.initials: V
authors.lastname: Sabato
authors.forename: Gennaro
authors.initials: G
authors.lastname: Musollino
authors.forename: Romeo
authors.initials: R
authors.lastname: Prezioso
authors.forename: Clementina
authors.initials: C
authors.lastname: Carestia
authors.forename: Giuseppina
authors.initials: G
authors.lastname: Lacerra
mesh_terms: D000293:Adolescent; D056905:Chromosome Breakpoints; D005319:Fetal Hemoglobin / Q000235:genetics*; D006801:Humans; D007558:Italy; D008297:Male; D010375:Pedigree; D017354:Point Mutation / Q000235:genetics; D012190:Retroviridae / Q000235:genetics*; D017384:Sequence Deletion / Q000235:genetics*; D037941:Silencer Elements, Transcriptional / Q000235:genetics*; D017086:beta-Thalassemia / Q000175:diagnosis* / Q000235:genetics; D055545:gamma-Globins / Q000235:genetics*
chemical_list: D055545:gamma-Globins; D005319:Fetal Hemoglobin
keywords: HbF; β-globin gene deletion; β-thalassemia; γ-globin gene regulation